OSBPL2 Chromosome 20
Oxysterol binding protein like 2
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What This Gene Does
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]
Gene Info
Gene Group
Oxysterol binding proteins
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000130703
Associated Conditions (3)
Inborn genetic diseases
OSBPL2-related disorder
Autosomal dominant nonsyndromic hearing loss 67
Key Variants
RS199648498
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200531495
Conflicting classifications of pathogenicity
Inborn genetic diseases, OSBPL2-related disorder, Inborn genetic diseases
Health Risk
RS757960108
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1981200603
Pathogenic
Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67
Health Risk
RS1981202197
Pathogenic
Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67
Health Risk
RS786205880
Pathogenic
Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67
Health Risk
RS786205881
Pathogenic
Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199648498 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200531495 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, OSBPL2-related disorder, Inborn genetic diseases |
| RS757960108 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1981200603 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67 |
| RS1981202197 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67 |
| RS786205880 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67 |
| RS786205881 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67 |